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1.

rs28944222 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    17:27756320 (GRCh38)
    17:26083346 (GRCh37)
    Canonical SPDI:
    NC_000017.11:27756319:C:T
    Gene:
    NOS2 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.020458/295 (ALFA)
    T=0./0 (ALSPAC)
    T=0.00027/1 (TWINSUK)
    T=0.024721/3690 (GnomAD_genomes)
    T=0.02476/124 (1000Genomes)
    T=0.025921/166 (1000Genomes_30X)
    T=0.027778/6 (Qatari)
    T=0.028259/7480 (TOPMED)
    C=0.5/3 (SGDP_PRJ)
    HGVS:

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